检索结果-南通市图书馆

The Impact of Lipid-metabolizing genetic Polymorphisms on Body Mass Index and Their Interactions with Soybean Food Intake: A Study in a Chinese Population

引用

Biomedical and Environmental Sciences 2014年第3期27卷 176-185页

作者： WANG Jin Wei TANG Xun LI Na WU Yi Qun LI Shuai LI Jin QIN Xue Ying ZHANG Zong Xin HU Yong Hua CHEN Da Fan Department of epidemiology and Biostatistics School of Public HealthPeking University Health Science Center Fangshan District Bureau of Health The First Hospital of Fangshan District

Objective To evaluate the association of known polymorphisms in the lipid metabolic pathway with body mass index （BMI）, and estimate their interactions with soybean food intake. Methods A community-based cross-sectional survey was conducted in a Chinese Han population. BMI, soybean food intake, and single nucleotide polymorphisms of rs599839, rs3846662, rs3846663, rs12916, rs174547, rs174570, rs4938303, and rs1558861 were measured in 944 subjects. A multivariate logistic regression was used to analyze the association of the studied polymorphisms with BMIs. The expectation-maximization algorithm was employed to evaluate the extent of linkage disequilibrium between pairwise polymorphisms. The gene-environment interaction was assessed in the general multifactor dimensionality reduction model. Results The polymorphisms of rs3846662 and rs3846663 were associated with 10% highest BMIs when comparing to the 10% lowest values both in individuals and haplotype-based association tests. Although no statistically significant gene-environment interactions were found, people with the haplotype composed of C allele in rs3846662 and T allele in rs3846663 and low frequency of soybean intake had significantly hisher risk to overweight and obesity as compared with those with the haplotype consisting of T allele in rs3846662 and C allele in rs3846663 and highly frequent soybean food intake, with an odds ratio of 1.64 （95% confidence interval： 1.15-2.34, P〈0.01） after adjusting for the common confounders. Conclusion Our study has sugsested that rs3846662 and rs3846663 may be the potential candidate polymorphisms for obesity, and their effect on the pathogenesis could be mediated by the frequency of soybean food intake.

关键词： Body mass index Lipid metabolism genetic epidemiology Haplotypes Gene-environment interaction

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Assessment of causal effects of physical activity on neurodegenerative diseases:A Mendelian randomization study

引用

Journal of Sport and Health Science 2021年第4期10卷 454-461页

作者： Peng-Fei Wu Hui Lu Xiaoting Zhou Xuchen Liang Ruizhuo Li Wan Zhang Danyang Li Kun Xia Center for Medical genetics&Hunan Provincial Key Laboratory of Medical genetics School of Life SciencesCentral South UniversityChangsha 410008China Department of Neurology Beth Israel Deaconess Medical Center&Harvard Medical SchoolBostonMA 02115USA Department of Neurology Xuanwu HospitalCapital Medical UniversityBeijing 100053China Department of Neurology Xiangya HospitalCentral South UniversityChangsha 410008China School of Physical Education Henan UniversityKaifeng 475001China School of Medicine South China University of TechnologyGuangzhou 510006China Department of Biology College of Arts&SciencesBoston UniversityBostonMA 02215USA CAS Center for Excellence in Brain Science and Intelligence Technology Shanghai 200031China

Background:Physical activity has been hypothesized to play a protective role in neurodegenerative ***,effect estimates previously derived from observational studies were prone to confounding or reverse ***:We performed a two-sample Mendelian randomization(MR)analysis to explore the causal association of accelerometer-measured physical activity with 3 common neurodegenerative diseases:Alzheimer’s disease(AD),Parkinson’s disease(PD),and amyotrophic lateral sclerosis(ALS).We selected genetic instrumental variants reaching genome-wide significance(p<5×10^(-8))from 2 largest meta-analyses of about 91,100 UK Biobank *** statistics for AD,PD,and ALS were retrieved from the up-to-date studies in European ancestry led by the international *** random-effect,inverse-variance weighted MR was employed as the primary method,while MR pleiotropy residual sum and outlier(MR-PRESSO),weighted median,and MR-Egger were implemented as sensitivity *** statistical analyses were performed using the R programming language(Version 3.6.1;R Foundation for Statistical Computing,Vienna,Austria).Results:Primary MR analysis and replication analysis utilized 5 and 8 instrumental variables,which explained 0.2%and 0.4%variance in physical activity,*** each set,one variant at 17q21 was significantly associated with PD,and MR sensitivity analyses indicated them it as an outlier and source of heterogeneity and *** results with the removal of outlier variants suggested odds ratios(ORs)of neurodegenerative diseases per unit increase in objectively measured physical activity were 1.52 for AD(95%confidence interval(95%CI):0.88-2.63,p=0.13)and 3.35 for PD(95%CI:1.32-8.48,p=0.01),while inconsistent results were shown in the replication set for AD(OR=1.06,95%CI:1.01-1.12,p=0.02)and PD(OR=0.99,95%CI:0.88-0.12,p=0.97).Similarly,the beneficial effect of physical activity on ALS(OR=0.51,95%CI:0.29-0.91,p=0.02)was not confirmed in

关键词： Alzheimer’s disease Amyotrophic lateral sclerosis genetic epidemiology Mendelian randomization Parkinson’s disease Physical activity

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

A common variation within the STEAP4 gene exons is associated with obesity in Uygur general population

引用

Chinese Medical Journal 2011年第14期124卷 2096-2100页

作者： GUO Yan-ying LI Nan-fang ZHOU Ling YAO Xiao-guang WANG Hong-mei ZHANG Ju-hong LUO Wen-li Hypertension Center People's Hospital of Xinjiang Uygur Autonomous Region Hypertension Institute of Xinjiang UrumqiXinjiang 830001China

Background Coordinated regulation of nutrient and inflammatory responses by six transmembrane epithelial antigen of prostate 4 （STEAP4） was essential for metabolic homeostasis. STEAP4 expression in human white adipose tissuewas associated with obesity. This study aimed to evaluate association between STEAP4 genetic polymorphisms and obesity in Uygur Chinese general *** The functional regions of STEAP4 gene were sequenced in 96 Uygur with obesity （body mass index （BMI）〉30 kg/m2）. Representative variations were selected according to the function and linkage disequilibrium and genotyped in 1507 obesity （BMI ≥25 kg/m2） and 825 non-obesity control （BMI ＜25 kg/m2）, all of whom were selected from epidemiology study of obesity-related diseases during January to February 2007 among Uygur population in Hetian area of Xinjiang Uygur Autonomous *** Fourteen novel and 6 known single nucleotide polymorphism （SNPs）, including 2 nonsynonymous SNPs （nsSNPs）, in the STEAP4 gene were identified. Of the 3 representative SNPs, the nsSNP rs1981529 （Gly75Asp, 224A/G）was significantly associated with obesity phenotype （additive P/Pc=0.001/0.006, dominant P/Pc=0.003/0.018, odds ratio （OR） and 95％ confidence interval （CI） adjusted for age, gender and drinking 0.755 （0.641-0.890） and 0.750（0.621-0.907）, respectively）. By the multiple linear regression analysis, the quantitative phenotypes of BMI （P/Pc=0.002/0.004） and waist circumference （P/Pc=0.004/0.008） were found to be significantly associated with the genotypes of rs1981529 （Gly75Asp, 224A/G） in Uygur general population, and effect size （beta value） of one allele G of rs1981529 （Gly75Asp, 224A/G） was-0.553 kg/m2 for BMI and -1.311 cm for waist circumference after controlling age,gender and drinking *** The present study shows an association of the common variation rs1981529 （Gly75Asp, 224A/G） in the STEAP4 gene with obesity in Uygur general population. Further studies should replicate the results

关键词： genetic epidemiology genetic association study obesity Uygur

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

The genetic load for hereditary hearing impairment in Chinese population and its clinical implication

引用

Journal of Otology 2009年第2期4卷 98-105页

作者： WANG Qiu-ju 1,2, RAO Shao-qi 1, 3, GUO Yu-fen 4, LI Qing-zhong 5, ZHAO Hui 1, ZHAO Li-dong 1, YUAN Hu 1, ZONG Liang 1, LIU Qiong 1, ZHAO Ya-li 6, WANG Da-yong 1, HAN Ming-kun 1, JI Yu-bin 1, LI Jian-qiang 1, LAN Lan 1, YANG Wei-yan 1, SHEN Yan 2,6, HAN Dong-yi 1 1 Department of Otorhinolaryngology-Head and Neck Surgery, and Institute of Otolaryngology, Chinese People’s Liberation Army General Hospital, Beijing, 100853 China 2 Chinese National Human Genome Center, Beijing, 100176 China 3 Department of Medical Statistics and epidemiology, School of Public Health, Sun Yat-Sen University, Guangzhou, 510080, China 4 Department of Otorhinolaryngology, Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou 730030, China 5 Department of Otolaryngology, EYE & ENT hospital of Fudan University, Shanghai, 200031,China 6 Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005 China Department of Otorhinolaryngology–Head and Neck Surgery and Institute of Otolaryngology Chinese People’s Liberation Army General Hospital Beijing 100853 China Chinese National Human Genome Center Beijing 100176 China Department of Medical Statistics and epidemiology School of Public Health Sun Yat–Sen University Guangzhou 510080 China Department of Otorhinolaryngology Head and Neck Surgery Second Hospital of Lanzhou UniversityLanzhou 730030 China Department of Otolaryngology EYE & ENT hospital of Fudan University Shanghai 200031China Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Beijing 100005 China

Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabilitation of deafness. Methods DNA samples, immortalized cell lines as well as detailed clinical and audiometric data were collected through a national genetic resources collecting network. Two conventional genetic approaches were used in the studies. Linkage analysis in X chromosome and autosomes with microsatellite markers were performed in large families for gene mapping and positional cloning of novel genes. Candidate gene approach was used for screening the mtDNA 12SrRNA, GJB2 and SLC26A4 mutations in population -based samples. Results A total of 2,572 Chinese hearing loss families or sporadic cases were characterized in the reported studies, including seven X-linked, one Y-linked, 28 large and multiplex autosomal dominant hearing loss families, 607 simplex autosomal recessive hereditary hearing loss families, 100 mitochondrial inheritance families, 147 GJB2 induced hearing loss cases, 230 cases with enlarged vestibular aqueduct (EVA) syndrome, 169 sporadic cases with auditory neuropathy, and 1,283 sporadic sensorineural hearing loss cases. Through linkage analysis or sequence analysis, two X-linked families were found transmitting two novel mutations in the POU3F4 gene, while another X -linked family was mapped onto a novel locus, nominated as AUNX1 (auditory neuropathy, X-linked locus 1). The only Y-linked family was mapped onto the DFNY1 locus(Y-linked locus 1, DFNY1). Eight of the 28 autosomal dominant families were linked to various autosomal loci. In population genetics studies, 2,567 familial cases and sporadic patients were subjected to mutation screening for three common hearing loss genes: mtDNA 12S rRNA 1555G, GJB2 and SLC26A4. The auditory neuropathy cases in our samples were screened for OTOF gene mutations. Conclusions These data show that the Chinese population has a genetic load on hereditary hearing loss. Establishing personalize

关键词： Hereditary hea ring loss linkage analysis DFNY1 AUNX1 auditory neuropathy enlarged vestibular aqueduct senserineural hearing loss genetic epidemiology

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort

引用

世界儿科杂志:英文版 2016年第2期12卷 190-195页

作者： Yu-Jun Chen Jennifer Anne Wambach Kelcey DePass Daniel James Wegner Shao-Ke Chen Qun-Yuan Zhang Hillary Heins Francis Sessions Cole Aaron Hamvas Division of Neonatology Department of Pediatricsthe First Affi liated Hospital of Guangxi Medical UniversityNanningChina Division of Newborn Medicine Edward Mallinckrodt Department of PediatricsWashington University School of MedicineSt.LouisUSA Department of Pediatrics Guangxi Maternal and Child Health HospitalNanningChina Division of Statistical Genomics Department of GeneticsWashington University School of MedicineSt.LouisUSA

Background: Rare mutations in surfactant-associatedgenes contribute to neonatal respiratory distress *** frequency of mutations in these genes in the Chinesepopulation is ***: We obtained blood spots from the GuangxiNeonatal Screening Center in Nanning, China thatincluded Han (n=443) and Zhuang (n=313) ethnic *** resequenced all exons of the surfactant proteins-B(SFTPB), -C (SFTPC), and the ATP-binding cassettemember A3 (ABCA3) genes and compared the frequenciesof 5 common and all rare ***: We found minor differences in thefrequencies of the common variants in the Han andZhuang cohorts. We did not find any rare mutations inSFTPB or SFTPC, but we found three ABCA3 mutationsin the Han [minor allele frequency (MAF)=0.003] and 7 inthe Zhuang (MAF=0.011) cohorts (P=0.10). The ABCA3mutations were unique to each cohort;five were *** collapsed carrier rate of rare ABCA3 mutations inthe Han and Zhuang populations combined was 1.3%,which is signifi cantly lower than that in the United States(P<0.001).Conclusions: The population-based frequency ofmutations in ABCA3 in south China newborns is signifi cantlylower than that in United States. The contribution of theserare ABCA3 mutations to disease burden in the south Chinapopulation is still unknown.

关键词： genetic epidemiology human population genetics neonatal respiratory distress syndrome pulmonary surfactant

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：